ikzf1 alteration in pediatric b-cell acute lymphoblastic leukemia: a single-center report on the frequency of ikzf1 deletions and its subtypes

Introduction: the most prevalent malignancy during childhood is b-cell acute lymphoblastic leukemia (b-all). many genetic variations are the causes of b-all. ikzf1 alterations are prevalent in childhood b-all cases, which are associated with a poor prognosis. this study examined seventy-two pediatric b-all patients for the frequency of ikzf1 alteration and types of ikzf1 deletions. materials and methods: in this study, bone marrow aspirate specimens at the stage of diagnosis in pediatric b–all patients were used. the diagnosis of b-all was performed following cytomorphology, cytochemistry, and immunophenotyping based on the 2016 world health organization (who) guidelines. all translocations, including tcf3-pbx1 fusion, etv6-runx1 fusion, bcr-abl1 fusion, and kmt2a-aff1 fusion, were performed on dna specimens of all patients. ikzf1 status was checked with the salsa mlpa p335 all-ikzf1 probemix kit. results: the common-b all subtype was detected in 64/72 patients (88.9%). cd2 and cd13 aberrant expressions were found in 5/72 (6.9%) and 7/72 patients (9.7%), respectively. molecular analysis for translocation revealed the frequency of etv6-runx1 in 12/72 patients (16.7%) and bcr-abl1 in 3/72 (4.2%). ikzf1 alterations were found in 13/72 patients (18%), of whom 10 (13.9%) had ikzf1 deletions. three common types of ikzf1 deletions were found. conclusion: the frequency of ikzf1 deletion in this study is similar to the results already obtained in larger studies. the type of ikzf1 deletion related to poor outcomes has a higher frequency in this study. because of the relatively high prevalence of ikzf1 deletion, its determination is important for better risk stratification and prognosis in pediatric b-all patients.